COSMIC:
COSM3755234 (not active)
Revel Score:
ENST00000268704
0.286
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1934546 (NFE)
Genomes Max Group AF
0.18418242 (NFE)
Exomes Max Group AF
0.19387575 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89546715A>G , CM000678.2:g.89546715A>G | GRCh38 |
| NC_000016.9:g.89613123A>G , CM000678.1:g.89613123A>G | GRCh37 |
| NC_000016.8:g.88140624A>G | NCBI36 |
| NG_008082.1:g.43319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1486A>G | ENSP00000268704.3:p.Thr496Ala | |
| ENST00000563218.6:n.566A>G | ||
| ENST00000566682.2:c.520A>G | ENSP00000461979.2:p.Thr174Ala | |
| ENST00000569820.6:c.493A>G | ||
| ENST00000642226.1:n.1356A>G | ||
| ENST00000642263.1:n.258A>G | ||
| ENST00000642334.1:c.2925A>G | ||
| ENST00000642427.1:n.907A>G | ||
| ENST00000642814.1:n.922A>G | ||
| ENST00000642984.1:n.1103A>G | ||
| ENST00000643105.1:c.2213A>G | ||
| ENST00000643350.1:n.564A>G | ||
| ENST00000643370.1:c.681A>G | ENSP00000494895.1:n.681A>G | |
| ENST00000643409.1:n.1932A>G | ||
| ENST00000643496.1:n.1324A>G | ||
| ENST00000643649.1:c.1507A>G | ENSP00000494806.1:p.Thr503Ala | |
| ENST00000643668.1:c.*1801A>G | ENSP00000494903.1:n.*1801A>G | |
| ENST00000643724.1:c.*555A>G | ENSP00000496335.1:n.*555A>G | |
| ENST00000643734.1:n.4420A>G | ||
| ENST00000643954.1:c.2406A>G | ||
| ENST00000644061.1:n.465A>G | ||
| ENST00000644171.1:n.2267A>G | ||
| ENST00000644210.1:c.*79A>G | ENSP00000495675.1:n.*79A>G | |
| ENST00000644225.1:n.1524A>G | ||
| ENST00000644464.1:n.160A>G | ||
| ENST00000644498.1:c.*1326A>G | ENSP00000496244.1:n.*1326A>G | |
| ENST00000644556.1:n.261-1587A>G | ||
| ENST00000644671.1:c.1164A>G | ||
| ENST00000644748.1:n.4823A>G | ||
| ENST00000644751.1:c.851+1943A>G | ||
| ENST00000644781.1:c.1507A>G | ENSP00000495473.1:p.Thr503Ala | |
| ENST00000644901.1:c.*1901A>G | ENSP00000493797.1:n.*1901A>G | |
| ENST00000644930.1:n.2633A>G | ||
| ENST00000645042.1:c.*281A>G | ENSP00000493908.1:n.*281A>G | |
| ENST00000645063.1:c.1507A>G | ENSP00000493590.1:p.Thr503Ala | |
| ENST00000645354.1:c.2267A>G | ||
| ENST00000645392.1:n.1848A>G | ||
| ENST00000645742.1:n.141A>G | ||
| ENST00000645818.2:c.1507A>G MANE Select | ENSP00000495795.2:p.Thr503Ala | |
| ENST00000645842.1:n.1352A>G | ||
| ENST00000645886.1:c.1012A>G | ||
| ENST00000645897.1:c.1045A>G | ENSP00000495293.1:p.Thr349Ala | |
| ENST00000645944.1:n.1281A>G | ||
| ENST00000645952.1:n.1372A>G | ||
| ENST00000645977.1:n.2625A>G | ||
| ENST00000646005.1:n.1265A>G | ||
| ENST00000646263.1:c.*380A>G | ENSP00000494119.1:n.*380A>G | |
| ENST00000646303.1:c.1375A>G | ENSP00000494160.1:p.Thr459Ala | |
| ENST00000646399.1:c.2401A>G | ||
| ENST00000646445.1:c.365A>G | ||
| ENST00000646454.1:n.768A>G | ||
| ENST00000646531.1:c.*130A>G | ENSP00000495185.1:n.*130A>G | |
| ENST00000646543.1:n.2261A>G | ||
| ENST00000646589.1:c.*635A>G | ENSP00000494739.1:n.*635A>G | |
| ENST00000646716.1:c.559A>G | ENSP00000495593.1:p.Thr187Ala | |
| ENST00000646826.1:c.*180A>G | ENSP00000495123.1:n.*180A>G | |
| ENST00000646930.1:c.*1436A>G | ENSP00000495219.1:n.*1436A>G | |
| ENST00000646958.1:n.2552A>G | ||
| ENST00000647032.1:c.1122A>G | ||
| ENST00000647079.1:c.1099A>G | ENSP00000495967.1:p.Thr367Ala | |
| ENST00000647123.1:n.1464A>G | ||
| ENST00000647227.1:c.1145A>G | ||
| ENST00000647302.1:n.2157A>G | ||
| ENST00000647491.1:n.1251A>G | ||
| ENST00000268704.6:c.1507A>G | ENSP00000268704.2:p.Thr503Ala | |
| ENST00000561911.5:c.52A>G | ENSP00000457387.1:p.Thr18Ala | |
| ENST00000563218.5:n.233A>G | ||
| ENST00000566221.5:c.105A>G | ||
| ENST00000569820.5:c.392A>G | ||
| ENST00000620811.4:c.-70A>G | ENSP00000478030.1:n.-70A>G | |
| NM_003119.3:c.1507A>G | NP_003110.1:p.Thr503Ala | |
| XM_006721264.2:c.1507A>G | XP_006721327.1:p.Thr503Ala | |
| NM_001363850.1:c.1507A>G | NP_001350779.1:p.Thr503Ala | |
| XM_006721264.4:c.1507A>G | XP_006721327.1:p.Thr503Ala | |
| XM_017023597.1:c.1507A>G | XP_016879086.1:p.Thr503Ala | |
| XM_017023598.1:c.1507A>G | XP_016879087.1:p.Thr503Ala | |
| XR_001751971.2:n.1856A>G | ||
| XR_001751972.2:n.1856A>G | ||
| NM_003119.4:c.1507A>G MANE Select | NP_003110.1:p.Thr503Ala |